Lipodystrophy and Heritable Pulmonary Arterial Hypertension via the CAV1 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
8887 CAV1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8887CAV181479 81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Congenital generalized lipodystrophy (CGL) is a group of heterogeneous autosomal recessive disorders characterized by a near complete loss of adipose tissue from birth and predisposition to metabolic complications later in life including diabetes mellitus, hypertriglyceridaemia and hepatic steatosis (Patni et al. 2015). Four distinct subtypes of CGL have been defined and are caused by defects in four respective genes. Type 3 CGL is caused by recessive pathogenic variants in the CAV1 gene (Kim et al. 2008). Other clinical features of Type 3 CGL include preserved mechanical and bone marrow adipose tissue, short stature, functional megaoesophagus, and hypocalcaemia due to vitamin D resistance.

In addition, heterozygous truncating CAV1 variants have been reported to cause partial lipodystrophy, neonatal onset lipodystrophy syndrome and a heritable form of pulmonary arterial hypertension (Cao et al. 2008; Garg et al. 2015; Austin et al. 2012). Of note, pulmonary arterial hypertension (PAH) is a life-threatening condition that progresses to right ventricular failure and death within 5 years of diagnosis in the majority of patients.

Genetics

Congenital generalized lipodystrophy (CGL) is inherited in an autosomal recessive manner (Patni et al. 2015). Four distinct subtypes of CGL have been defined and are caused by defects in four respective genes: AGPAT2, BSCL2, CAV1 and PTRF. The encoded proteins of these genes play key roles in phospholipid and triglyceride synthesis, the fusion of lipid droplets, and the biogenesis of caveolae within adipocytes.

The CAV1 gene (three coding exons) encodes caveolin 1, which is a major component of caveolae. So far, documented genetic defects of CAV1 include missense and truncating pathogenic variants. Only one nonsense variant has been reported to cause CGL. Large deletions and duplications have not been reported (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Detection rate of pathogenic variants in the CAV1 gene in a large cohort of patients with different relevant conditions is unknown in the literature because only limited cases have been reported in individual studies (Human Gene Mutation Database). Analytical sensitivity should be high as all reported pathogenic variants are expected to be detected by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the CAV1 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Candidates for this test are patients with congenital generalized lipodystrophy, partial lipodystrophy or the heritable form of pulmonary arterial hypertension. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CAV1.

Gene

Official Gene Symbol OMIM ID
CAV1 601047
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Austin E.D. et al. 2012. Circulation. Cardiovascular Genetics. 5: 336-43. PubMed ID: 22474227
  • Cao H. et al. 2008. Lipids in Health and Disease. 7: 3. PubMed ID: 18237401
  • Garg A. et al. 2015. American Journal of Medical Genetics. Part A. 167A: 1796-806. PubMed ID: 25898808
  • Human Gene Mutation Database (Bio-base).
  • Kim C.A. et al. 2008. The Journal of Clinical Endocrinology and Metabolism. 93: 1129-34. PubMed ID: 18211975
  • Patni N., Garg A. 2015. Nature Reviews Endocrinology. 11: 522-34. PubMed ID: 26239609

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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